- POLG
Polymerase (DNA directed), gamma, also known as POLG, is a human
gene .PBB_Summary
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summary_text =Further reading
PBB_Further_reading
citations =
*cite journal | author=Graziewicz MA, Longley MJ, Copeland WC |title=DNA polymerase gamma in mitochondrial DNA replication and repair. |journal=Chem. Rev. |volume=106 |issue= 2 |pages= 383–405 |year= 2006 |pmid= 16464011 |doi= 10.1021/cr040463d
*cite journal | author=Hudson G, Chinnery PF |title=Mitochondrial DNA polymerase-gamma and human disease. |journal=Hum. Mol. Genet. |volume=15 Spec No 2 |issue= |pages= R244–52 |year= 2006 |pmid= 16987890 |doi= 10.1093/hmg/ddl233
*cite journal | author=Lestienne P |title=Evidence for a direct role of the DNA polymerase gamma in the replication of the human mitochondrial DNA in vitro. |journal=Biochem. Biophys. Res. Commun. |volume=146 |issue= 3 |pages= 1146–53 |year= 1987 |pmid= 3619920 |doi=
*cite journal | author=Ropp PA, Copeland WC |title=Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. |journal=Genomics |volume=36 |issue= 3 |pages= 449–58 |year= 1997 |pmid= 8884268 |doi= 10.1006/geno.1996.0490
*cite journal | author=Lecrenier N, Van Der Bruggen P, Foury F |title=Mitochondrial DNA polymerases from yeast to man: a new family of polymerases. |journal=Gene |volume=185 |issue= 1 |pages= 147–52 |year= 1997 |pmid= 9034326 |doi=
*cite journal | author=Walker RL, Anziano P, Meltzer PS |title=A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25. |journal=Genomics |volume=40 |issue= 2 |pages= 376–8 |year= 1997 |pmid= 9119411 |doi= 10.1006/geno.1996.4580
*cite journal | author=Zullo SJ, Butler L, Zahorchak RJ, "et al." |title=Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). |journal=Cytogenet. Cell Genet. |volume=78 |issue= 3-4 |pages= 281–4 |year= 1998 |pmid= 9465903 |doi=
*cite journal | author=Kapsa RM, Quigley AF, Han TF, "et al." |title=mtDNA replicative potential remains constant during ageing: polymerase gamma activity does not correlate with age related cytochrome oxidase activity decline in platelets. |journal=Nucleic Acids Res. |volume=26 |issue= 19 |pages= 4365–73 |year= 1998 |pmid= 9742236 |doi=
*cite journal | author=Spelbrink JN, Toivonen JM, Hakkaart GA, "et al." |title=In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. |journal=J. Biol. Chem. |volume=275 |issue= 32 |pages= 24818–28 |year= 2000 |pmid= 10827171 |doi= 10.1074/jbc.M000559200
*cite journal | author=Van Goethem G, Dermaut B, Löfgren A, "et al." |title=Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. |journal=Nat. Genet. |volume=28 |issue= 3 |pages= 211–2 |year= 2001 |pmid= 11431686 |doi= 10.1038/90034
*cite journal | author=Hirano M, DiMauro S |title=ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. |journal=Neurology |volume=57 |issue= 12 |pages= 2163–5 |year= 2003 |pmid= 11756592 |doi=
*cite journal | author=Ponamarev MV, Longley MJ, Nguyen D, "et al." |title=Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. |journal=J. Biol. Chem. |volume=277 |issue= 18 |pages= 15225–8 |year= 2002 |pmid= 11897778 |doi= 10.1074/jbc.C200100200
*cite journal | author=Nitanai Y, Satow Y, Adachi H, Tsujimoto M |title=Crystal structure of human renal dipeptidase involved in beta-lactam hydrolysis. |journal=J. Mol. Biol. |volume=321 |issue= 2 |pages= 177–84 |year= 2002 |pmid= 12144777 |doi=
*cite journal | author=Lamantea E, Tiranti V, Bordoni A, "et al." |title=Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. |journal=Ann. Neurol. |volume=52 |issue= 2 |pages= 211–9 |year= 2002 |pmid= 12210792 |doi= 10.1002/ana.10278
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Van Goethem G, Martin JJ, Dermaut B, "et al." |title=Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. |journal=Neuromuscul. Disord. |volume=13 |issue= 2 |pages= 133–42 |year= 2003 |pmid= 12565911 |doi=
*cite journal | author=Jazayeri M, Andreyev A, Will Y, "et al." |title=Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype. |journal=J. Biol. Chem. |volume=278 |issue= 11 |pages= 9823–30 |year= 2003 |pmid= 12645575 |doi=
*cite journal | author=Garrido N, Griparic L, Jokitalo E, "et al." |title=Composition and dynamics of human mitochondrial nucleoids. |journal=Mol. Biol. Cell |volume=14 |issue= 4 |pages= 1583–96 |year= 2003 |pmid= 12686611 |doi= 10.1091/mbc.E02-07-0399
*cite journal | author=Agostino A, Valletta L, Chinnery PF, "et al." |title=Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). |journal=Neurology |volume=60 |issue= 8 |pages= 1354–6 |year= 2004 |pmid= 12707443 |doi=
*cite journal | author=Van Goethem G, Schwartz M, Löfgren A, "et al." |title=Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 7 |pages= 547–9 |year= 2004 |pmid= 12825077 |doi= 10.1038/sj.ejhg.5201002PBB_Controls
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